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Jacobsen, Jeffrey

Mayo Clinic

University of Utah

Citations 3

Rapid growth of acquired UBA1 mutations predisposes male patients to low-risk MDS
Li, Peng , Fnu, Alnoor, Xie, Wei , Williams, Margaret S., Feusier, Julie Feusier, Zhao, Xiangrong, Zheng, Gang , Zieski, Arthur, Tantravahi, Srinivas K. , Tashi, Tsewang , Patel, Jay , Miles, Rodney R., Jacobsen, Jeffrey, Sborov, Douglas W. , Szankasi, Philippe , Rindler, Paul M., Close, Devin , Ohgami, Robert S. , Li, Peng , Alnoor, Fnu , Williams, Margaret C. , Feusier, Julie , Ding, Yi , Zhao, Chen , Zieske, Arthur W., Zu, Youli , Raess, Philipp W. , Osman, Afaf E.G. , Patel, Ami B. , Matynia, Anna P., Menon, Madhu P , Jacobsen, Jeffrey, George, Tracy I.

No container title available | May 23, 2024 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.21203/rs.3.rs-4397067/v1 Get It

Abstract VEXAS (vacuoles, E1-ubiquitin-like modifier activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory disorder caused by acquired UBA1 mutations in hematopoietic precursor cells. The prevalence, clinical significance, and genomic landscape of UBA1variants in patients with hematologic malignancies (HM) remains unexplored. We analyzed the genomic profiles of 86 patients carrying 17 different UBA1variants amongst an unbiased cohort of 8,976 HM patients. Specific genetic and clinical features seen more frequently in patients with UBA1 pathogenic variants (PV) versus those with variants of uncertain significance (VUS) included: marked male predominance (98% versus 80%, P=0.002), macrocytic anemia (MCV 105 ± 1.4 fl versus 96 ± 1.4 fl, p=0.01), frequent dominant clones without concurrent somatic variants (53% versus 15%, p=0.004), and association with molecularly distinct low-risk myelodysplastic syndrome (MDS; 13%) with superior overall survival (OS). Interestingly, while the genetic profiles of UBA1 PV patients resemble patients with clonal cytopenia of unknown significance (CCUS), rapid UBA1 clonal expansion predispose patients to convert to low-grade MDS with a notably hastened progression compared to UBA1 wild-type CCUS. This “clone surge to clinical stability” (CS) is a mechanism that emphasizes the unique pathobiology of UBA1mutations in VEXAS and supports it as a distinct entity.
Isolated optic nerve leukemic relapse diagnosed via fine needle aspiration biopsy and transconjunctival biopsy
McInnis‐Smith, Kerri , Mansueto, Lisa A., Schafernak, Kristian T. , Jacobsen, Jeffrey, Henry, M M , Ramasubramanian, Aparna , Henry, Michael M , McInnis-Smith, Kerri M , Schafernak, Kristian

Pediatric Blood & Cancer | September 4, 2020 | Volume: 68 | Issue: 2 | Pages: No page available

10.1002/pbc.28684 Get It

Isolated Optic Nerve Leukemic Relapse Diagnosed via Fine Needle Aspiration Biopsy and Transconjunctival Biopsy
Smith, Kerri McInnis, Mansueto, Lisa A., Schafernak, Kristian T. , Jacobsen, Jeffrey, Henry, M M , Ramasubramanian, Aparna , Henry, Michael M , Schafernak, Kristian , McInnis‐Smith, Kerri

No container title available | June 8, 2020 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.22541/au.159164631.14999578 Get It

Pre-B cell acute lymphoblastic leukemia (ALL) is a hematologic malignancy that arises from overproduction of immature lymphoid cells. ALL has a propensity for recurring in the bone marrow and/or extramedullary sites following complete remission. We present the case of a young male with a history of pre-B cell ALL who presented with leukemic recurrence isolated to the optic nerve. Transvitreal fine needle aspiration biopsy followed by transconjunctival optic nerve biopsy confirmed the diagnosis of ALL relapse and should be considered helpful diagnostic tools in the setting of suspected optic nerve malignancy with otherwise negative workup.